Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	6247
Gene name	Retinoschisin 1
Gene symbol	RS1
Synonyms (NCBI Gene)	RSXLRS1
Chromosome	X
Chromosome location	Xp22.13
Summary	This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this ge

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894935	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs281865332	T>A,C	Not-provided, pathogenic	Missense variant, initiator codon variant
rs1555959367	A>C	Pathogenic	Splice donor variant

207

Show/Hide all (207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT682285	hsa-miR-424-5p	HITS-CLIP	23706177
MIRT682284	hsa-miR-15b-5p	HITS-CLIP	23706177
MIRT682283	hsa-miR-497-5p	HITS-CLIP	23706177
MIRT682282	hsa-miR-195-5p	HITS-CLIP	23706177
MIRT682281	hsa-miR-6838-5p	HITS-CLIP	23706177
MIRT682280	hsa-miR-15a-5p	HITS-CLIP	23706177
MIRT682279	hsa-miR-16-5p	HITS-CLIP	23706177
MIRT682278	hsa-miR-4311	HITS-CLIP	23706177
MIRT682277	hsa-miR-1276	HITS-CLIP	23706177
MIRT682276	hsa-miR-583	HITS-CLIP	23706177
MIRT682275	hsa-miR-4731-3p	HITS-CLIP	23706177
MIRT682274	hsa-miR-4801	HITS-CLIP	23706177
MIRT682273	hsa-miR-503-5p	HITS-CLIP	23706177
MIRT682272	hsa-miR-646	HITS-CLIP	23706177
MIRT682271	hsa-miR-664a-3p	HITS-CLIP	23706177
MIRT682270	hsa-miR-4719	HITS-CLIP	23706177
MIRT682269	hsa-miR-4310	HITS-CLIP	23706177
MIRT682268	hsa-miR-7157-5p	HITS-CLIP	23706177
MIRT682267	hsa-miR-103b	HITS-CLIP	23706177
MIRT682266	hsa-miR-4744	HITS-CLIP	23706177
MIRT682265	hsa-miR-103a-3p	HITS-CLIP	23706177
MIRT682264	hsa-miR-107	HITS-CLIP	23706177
MIRT682263	hsa-miR-1206	HITS-CLIP	23706177
MIRT682262	hsa-miR-6853-3p	HITS-CLIP	23706177
MIRT682261	hsa-miR-4524a-5p	HITS-CLIP	23706177
MIRT682260	hsa-miR-4524b-5p	HITS-CLIP	23706177
MIRT682259	hsa-let-7a-3p	HITS-CLIP	23706177
MIRT682258	hsa-let-7b-3p	HITS-CLIP	23706177
MIRT682257	hsa-let-7f-1-3p	HITS-CLIP	23706177
MIRT682256	hsa-miR-98-3p	HITS-CLIP	23706177
MIRT682255	hsa-miR-4789-5p	HITS-CLIP	23706177
MIRT682254	hsa-let-7f-2-3p	HITS-CLIP	23706177
MIRT682253	hsa-miR-1185-1-3p	HITS-CLIP	23706177
MIRT682252	hsa-miR-1185-2-3p	HITS-CLIP	23706177
MIRT682251	hsa-miR-376a-3p	HITS-CLIP	23706177
MIRT682250	hsa-miR-376b-3p	HITS-CLIP	23706177
MIRT682285	hsa-miR-424-5p	HITS-CLIP	23706177
MIRT682284	hsa-miR-15b-5p	HITS-CLIP	23706177
MIRT682283	hsa-miR-497-5p	HITS-CLIP	23706177
MIRT682282	hsa-miR-195-5p	HITS-CLIP	23706177
MIRT682281	hsa-miR-6838-5p	HITS-CLIP	23706177
MIRT682280	hsa-miR-15a-5p	HITS-CLIP	23706177
MIRT682279	hsa-miR-16-5p	HITS-CLIP	23706177
MIRT682278	hsa-miR-4311	HITS-CLIP	23706177
MIRT682277	hsa-miR-1276	HITS-CLIP	23706177
MIRT682276	hsa-miR-583	HITS-CLIP	23706177
MIRT682275	hsa-miR-4731-3p	HITS-CLIP	23706177
MIRT682274	hsa-miR-4801	HITS-CLIP	23706177
MIRT682273	hsa-miR-503-5p	HITS-CLIP	23706177
MIRT682272	hsa-miR-646	HITS-CLIP	23706177
MIRT682271	hsa-miR-664a-3p	HITS-CLIP	23706177
MIRT682270	hsa-miR-4719	HITS-CLIP	23706177
MIRT682269	hsa-miR-4310	HITS-CLIP	23706177
MIRT682268	hsa-miR-7157-5p	HITS-CLIP	23706177
MIRT682267	hsa-miR-103b	HITS-CLIP	23706177
MIRT682266	hsa-miR-4744	HITS-CLIP	23706177
MIRT682265	hsa-miR-103a-3p	HITS-CLIP	23706177
MIRT682264	hsa-miR-107	HITS-CLIP	23706177
MIRT682263	hsa-miR-1206	HITS-CLIP	23706177
MIRT682262	hsa-miR-6853-3p	HITS-CLIP	23706177
MIRT682261	hsa-miR-4524a-5p	HITS-CLIP	23706177
MIRT682260	hsa-miR-4524b-5p	HITS-CLIP	23706177
MIRT682259	hsa-let-7a-3p	HITS-CLIP	23706177
MIRT682258	hsa-let-7b-3p	HITS-CLIP	23706177
MIRT682257	hsa-let-7f-1-3p	HITS-CLIP	23706177
MIRT682256	hsa-miR-98-3p	HITS-CLIP	23706177
MIRT682255	hsa-miR-4789-5p	HITS-CLIP	23706177
MIRT682254	hsa-let-7f-2-3p	HITS-CLIP	23706177
MIRT682253	hsa-miR-1185-1-3p	HITS-CLIP	23706177
MIRT682252	hsa-miR-1185-2-3p	HITS-CLIP	23706177
MIRT682251	hsa-miR-376a-3p	HITS-CLIP	23706177
MIRT682250	hsa-miR-376b-3p	HITS-CLIP	23706177
MIRT1320783	hsa-miR-103a	CLIP-seq
MIRT1320784	hsa-miR-1255a	CLIP-seq
MIRT1320785	hsa-miR-1255b	CLIP-seq
MIRT1320786	hsa-miR-1261	CLIP-seq
MIRT1320787	hsa-miR-128	CLIP-seq
MIRT1320788	hsa-miR-1286	CLIP-seq
MIRT1320789	hsa-miR-139-5p	CLIP-seq
MIRT1320790	hsa-miR-144	CLIP-seq
MIRT1320791	hsa-miR-1470	CLIP-seq
MIRT1320792	hsa-miR-15a	CLIP-seq
MIRT1320793	hsa-miR-15b	CLIP-seq
MIRT1320794	hsa-miR-16	CLIP-seq
MIRT1320795	hsa-miR-195	CLIP-seq
MIRT1320796	hsa-miR-27a	CLIP-seq
MIRT1320797	hsa-miR-27b	CLIP-seq
MIRT1320798	hsa-miR-297	CLIP-seq
MIRT1320799	hsa-miR-3130-5p	CLIP-seq
MIRT1320800	hsa-miR-3149	CLIP-seq
MIRT1320801	hsa-miR-3167	CLIP-seq
MIRT1320802	hsa-miR-3170	CLIP-seq
MIRT1320803	hsa-miR-339-5p	CLIP-seq
MIRT1320804	hsa-miR-34c-3p	CLIP-seq
MIRT1320805	hsa-miR-3591-5p	CLIP-seq
MIRT1320806	hsa-miR-3620	CLIP-seq
MIRT1320807	hsa-miR-3663-5p	CLIP-seq
MIRT1320808	hsa-miR-3667-3p	CLIP-seq
MIRT1320809	hsa-miR-3668	CLIP-seq
MIRT1320810	hsa-miR-3672	CLIP-seq
MIRT1320811	hsa-miR-3677-3p	CLIP-seq
MIRT1320812	hsa-miR-3681	CLIP-seq
MIRT1320813	hsa-miR-376a	CLIP-seq
MIRT1320814	hsa-miR-376b	CLIP-seq
MIRT1320815	hsa-miR-3924	CLIP-seq
MIRT1320816	hsa-miR-424	CLIP-seq
MIRT1320817	hsa-miR-4260	CLIP-seq
MIRT1320818	hsa-miR-4261	CLIP-seq
MIRT1320819	hsa-miR-4281	CLIP-seq
MIRT1320820	hsa-miR-4318	CLIP-seq
MIRT1320821	hsa-miR-4329	CLIP-seq
MIRT1320822	hsa-miR-4420	CLIP-seq
MIRT1320823	hsa-miR-4460	CLIP-seq
MIRT1320824	hsa-miR-4482	CLIP-seq
MIRT1320825	hsa-miR-4501	CLIP-seq
MIRT1320826	hsa-miR-4524	CLIP-seq
MIRT1320827	hsa-miR-4667-3p	CLIP-seq
MIRT1320828	hsa-miR-4676-5p	CLIP-seq
MIRT1320829	hsa-miR-4693-5p	CLIP-seq
MIRT1320830	hsa-miR-4704-3p	CLIP-seq
MIRT1320831	hsa-miR-4722-5p	CLIP-seq
MIRT1320832	hsa-miR-4727-3p	CLIP-seq
MIRT1320833	hsa-miR-4729	CLIP-seq
MIRT1320834	hsa-miR-4753-3p	CLIP-seq
MIRT1320835	hsa-miR-4755-3p	CLIP-seq
MIRT1320836	hsa-miR-4768-5p	CLIP-seq
MIRT1320837	hsa-miR-4780	CLIP-seq
MIRT1320838	hsa-miR-4786-3p	CLIP-seq
MIRT1320839	hsa-miR-4786-5p	CLIP-seq
MIRT1320840	hsa-miR-4790-3p	CLIP-seq
MIRT1320841	hsa-miR-4797-5p	CLIP-seq
MIRT1320842	hsa-miR-497	CLIP-seq
MIRT1320843	hsa-miR-503	CLIP-seq
MIRT1320844	hsa-miR-513a-5p	CLIP-seq
MIRT1320845	hsa-miR-567	CLIP-seq
MIRT1320846	hsa-miR-575	CLIP-seq
MIRT1320847	hsa-miR-579	CLIP-seq
MIRT1320848	hsa-miR-615-5p	CLIP-seq
MIRT1320849	hsa-miR-647	CLIP-seq
MIRT1320850	hsa-miR-664	CLIP-seq
MIRT1320851	hsa-miR-769-5p	CLIP-seq
MIRT1320852	hsa-miR-876-5p	CLIP-seq
MIRT1320853	hsa-miR-892a	CLIP-seq
MIRT1320783	hsa-miR-103a	CLIP-seq
MIRT2095239	hsa-miR-1229	CLIP-seq
MIRT1320784	hsa-miR-1255a	CLIP-seq
MIRT1320785	hsa-miR-1255b	CLIP-seq
MIRT2095240	hsa-miR-1280	CLIP-seq
MIRT1320792	hsa-miR-15a	CLIP-seq
MIRT1320793	hsa-miR-15b	CLIP-seq
MIRT1320794	hsa-miR-16	CLIP-seq
MIRT1320795	hsa-miR-195	CLIP-seq
MIRT2095241	hsa-miR-3691-5p	CLIP-seq
MIRT1320813	hsa-miR-376a	CLIP-seq
MIRT1320814	hsa-miR-376b	CLIP-seq
MIRT1320816	hsa-miR-424	CLIP-seq
MIRT2095242	hsa-miR-4320	CLIP-seq
MIRT1320826	hsa-miR-4524	CLIP-seq
MIRT2095243	hsa-miR-4643	CLIP-seq
MIRT2095244	hsa-miR-466	CLIP-seq
MIRT1320828	hsa-miR-4676-5p	CLIP-seq
MIRT1320830	hsa-miR-4704-3p	CLIP-seq
MIRT1320838	hsa-miR-4786-3p	CLIP-seq
MIRT2095245	hsa-miR-4789-3p	CLIP-seq
MIRT1320842	hsa-miR-497	CLIP-seq
MIRT1320843	hsa-miR-503	CLIP-seq
MIRT1320846	hsa-miR-575	CLIP-seq
MIRT1320850	hsa-miR-664	CLIP-seq
MIRT1320783	hsa-miR-103a	CLIP-seq
MIRT2319597	hsa-miR-1253	CLIP-seq
MIRT1320792	hsa-miR-15a	CLIP-seq
MIRT1320793	hsa-miR-15b	CLIP-seq
MIRT1320794	hsa-miR-16	CLIP-seq
MIRT1320795	hsa-miR-195	CLIP-seq
MIRT2319598	hsa-miR-3127-5p	CLIP-seq
MIRT2319599	hsa-miR-3148	CLIP-seq
MIRT2319600	hsa-miR-331-3p	CLIP-seq
MIRT1320813	hsa-miR-376a	CLIP-seq
MIRT1320814	hsa-miR-376b	CLIP-seq
MIRT1320816	hsa-miR-424	CLIP-seq
MIRT2319601	hsa-miR-4270	CLIP-seq
MIRT2319602	hsa-miR-4307	CLIP-seq
MIRT2319603	hsa-miR-4441	CLIP-seq
MIRT1320826	hsa-miR-4524	CLIP-seq
MIRT2319604	hsa-miR-4639-5p	CLIP-seq
MIRT2319605	hsa-miR-4668-5p	CLIP-seq
MIRT1320828	hsa-miR-4676-5p	CLIP-seq
MIRT1320830	hsa-miR-4704-3p	CLIP-seq
MIRT1320838	hsa-miR-4786-3p	CLIP-seq
MIRT1320842	hsa-miR-497	CLIP-seq
MIRT1320843	hsa-miR-503	CLIP-seq
MIRT1320846	hsa-miR-575	CLIP-seq
MIRT1320850	hsa-miR-664	CLIP-seq
MIRT2393926	hsa-miR-1343	CLIP-seq
MIRT2393927	hsa-miR-3921	CLIP-seq
MIRT2393928	hsa-miR-4536	CLIP-seq
MIRT2393929	hsa-miR-4653-5p	CLIP-seq
MIRT1320828	hsa-miR-4676-5p	CLIP-seq
MIRT2393930	hsa-miR-4682	CLIP-seq
MIRT1320846	hsa-miR-575	CLIP-seq
MIRT2458645	hsa-miR-3647-3p	CLIP-seq
MIRT2458646	hsa-miR-542-5p	CLIP-seq
MIRT2615269	hsa-miR-1281	CLIP-seq
MIRT2615270	hsa-miR-191	CLIP-seq
MIRT1320835	hsa-miR-4755-3p	CLIP-seq
MIRT2615271	hsa-miR-665	CLIP-seq
MIRT2615272	hsa-miR-873	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
CREBBP	Unknown	18927113
CRX	Activation	18927113
EP300	Unknown	18927113

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	TAS	9326935
GO:0001786	Function	Phosphatidylserine binding	ISS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS	21196491
GO:0005543	Function	Phospholipid binding	IPI	21196491
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19849666
GO:0005615	Component	Extracellular space	TAS	10915776
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9326935
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	19093009
GO:0008289	Function	Lipid binding	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	IGI	21196491
GO:0009986	Component	Cell surface	IEA
GO:0010842	Process	Retina layer formation	IBA
GO:0010842	Process	Retina layer formation	IEA
GO:0016020	Component	Membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0051260	Process	Protein homooligomerization	IDA	19849666
GO:0098984	Component	Neuron to neuron synapse	IEA
GO:0098984	Component	Neuron to neuron synapse	ISS	21196491

MIM	HGNC	e!Ensembl
300839	10457	ENSG00000102104

O15537

Protein name

Retinoschisin (X-linked juvenile retinoschisis protein)

Protein function

Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two n

PDB

3JD6 , 5N6W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00754	F5_F8_type_C	80 → 216	F5/8 type C domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expre

Sequence

MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCI
PECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSS
QWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNS
DRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA

Sequence length

224

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 2	Pathogenic	rs281865365	RCV004767069	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile retinoschisis	Likely pathogenic; Pathogenic	rs200866925, rs281865342, rs62645889, rs281865344, rs62645895, rs104894928, rs61752062, rs281865346, rs61752075, rs61752145, rs281865335, rs61752153, rs61752158, rs61752159, rs281865336 View all (60 more)	RCV001353045 RCV000010572 RCV005862505 RCV001199775 RCV001352955 View all (76 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular schisis	Pathogenic	rs199469696	RCV000058876	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs281865345	RCV005926807	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral schisis	Pathogenic	rs199469696	RCV000058876	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic	rs61752068	RCV006253464	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1927814979, rs62645885, rs62645889, rs104894928, rs61750457, rs61752062, rs61752065, rs61752071, rs61752072, rs61752145, rs281865335, rs61752156, rs61752158, rs61752159, rs61753164 View all (36 more)	RCV004815354 RCV004815052 RCV004815053 RCV004815054 RCV004815055 View all (49 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoschisis	Pathogenic; Likely pathogenic	rs281865345, rs61752075, rs61752156, rs61752158, rs281865349, rs281865352, rs2147209764, rs61752067, rs104894930, rs2518919912, rs1602308821	RCV001003220 RCV001003219 RCV001003218 RCV001003217 RCV001003216 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RS1-related disorder	Pathogenic	rs61752068, rs62645894	RCV003415684 RCV003392227	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs281865348, rs281865340, rs2147189125, rs62645894, rs281865344	RCV005887717 RCV005887718 RCV005887719 RCV005930077 RCV005928599 RCV005931072 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF RETINA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL RETINAL ANEURYSM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIN-DEPENDENT KINASE-LIKE 5 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOSCHISIS 1, X-LINKED, JUVENILE	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOSCHISIS, JUVENILE, X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETT SYNDROME, ATYPICAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED RETINOSCHISIS	—	ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RS1 (retinoschisin 1)